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Items: 15

1.

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14.

PMID:
23412609
2.

Types A and B Niemann-Pick disease.

Schuchman EH, Wasserstein MP.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):237-47. doi: 10.1016/j.beem.2014.10.002. Epub 2014 Oct 16. Review.

PMID:
25987176
3.

Adult-onset pulmonary involvement in Niemann-Pick disease type B.

Iaselli F, Rea G, Cappabianca S, Fabozzi G, Montemarano M, Vitale C, Stanziola AA, Muto R, Rotondo A.

Monaldi Arch Chest Dis. 2011 Dec;75(4):235-40. Review.

4.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

J Inherit Metab Dis. 2007 Oct;30(5):654-63. Epub 2007 Jul 12. Review.

PMID:
17632693
5.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Review.

PMID:
27491215
6.

Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease. Case report and review of the literature.

Putterman C, Zelingher J, Shouval D.

J Clin Gastroenterol. 1992 Sep;15(2):146-9. Review.

PMID:
1401826
7.

Sphingomyelinase enzyme assay in Niemann-Pick disease.

Kaur M, Das GP, Verma IC.

Indian J Pediatr. 1993 Jul-Aug;60(4):583-90. Review.

PMID:
8262595
8.

[Adult psychiatric aspects of Niemann-Pick disease].

Faludi G, Gonda X, Döme P.

Neuropsychopharmacol Hung. 2013 Jun;15(2):95-103. Review. Hungarian.

9.
10.

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.

Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM.

J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28. Review.

11.

Lung affectation in an adult patient with Niemann-Pick disease, type B.

Castañón Martínez R, Fernández-Velilla Peña M, González Montaño MV, Gómez Carrera L, Torres Sánchez MI.

Arch Bronconeumol. 2012 Jun;48(6):213-5. doi: 10.1016/j.arbres.2011.07.009. Epub 2011 Nov 8. Review. English, Spanish.

12.

Understanding Niemann-Pick type C disease: a fat problem.

Vincent I, Bu B, Erickson RP.

Curr Opin Neurol. 2003 Apr;16(2):155-61. Review.

PMID:
12644742
13.

Niemann-Pick disease type C: an update.

Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R.

J Inherit Metab Dis. 1991;14(4):580-95. Review.

PMID:
1749223
14.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S48-57. Review.

PMID:
20040312
15.

Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Vanier MT, Rodriguez-Lafrasse C, Rousson R, Duthel S, Harzer K, Pentchev PG, Revol A, Louisot P.

Dev Neurosci. 1991;13(4-5):307-14. Review.

PMID:
1817036

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